ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.9321G>A (p.Pro3107=)

gnomAD frequency: 0.00365  dbSNP: rs543846859
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000286492 SCV000399431 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001718672 SCV000716451 benign not provided 2019-11-07 criteria provided, single submitter clinical testing
Invitae RCV001718672 SCV002392192 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278476 SCV002565443 likely benign Ehlers-Danlos syndrome 2022-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374549 SCV002687608 likely benign Cardiovascular phenotype 2019-06-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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